alpha-N-acetylgalactosaminidase deficiency type 1

Rare Disease

MONDO:0012221

Also Known As

NAGA deficiency type 1Schindler disease type 1Schindler disease, type IIIAlpha-N-acetylgalactosaminidase deficiency, type 1Alpha-N-acetylgalactosaminidase deficiency, type 3N-acetyl-alpha-D-galactosaminidase deficiency type IIINAGA deficiency, type 1NAGA deficiency, type 3Schindler disease type ISchindler disease, type 1Schindler disease, type 3Schindler disease, type Ialpha-N-acetylgalactosaminidase deficiency, type 1neuroaxonal dystrophy, Schindler type

Definition

Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.